Y728H (p.Tyr728His) variant of RAG1 (P15918)
Y728H (p.Tyr728His) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Combined immunodeficiency due to partial RAG1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
Y728H (p.Tyr728His) variant details
- p.Tyr728His
- rs1564989655
- ClinGen CA380154173
- ClinVar RCV000766116
- ClinVar RCV003472286
- Likely pathogenic
- Combined immunodeficiency due to partial RAG1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.76
- MetaLR 0.87
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Likely pathogenic (Combined immunodeficiency due to partial RAG1 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available